Fucosidosis: severe phenotype with survival to adult age.

A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of alpha-fucosidase does not by itself preclude survival to adult age.